The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility

References

• A, Z., Zhang, S., Yang, Y., Ma, Y., Lin, L. and Zhang, W. (2006) Single nucleotide polymorphisms of the gonadotrophin-regulated testicular helicase (GRTH) gene may be associated with the human spermatogenesis impairment. Hum Reprod 21:755–759.
   PubMed Web of Science ®Google Scholar
• Aguilera, A. and Gomez-Gonzalez, B. (2008) Genome instability: a mechanistic view of its causes and consequences. Nat Rev Genet 9:204–217.
   PubMed Web of Science ®Google Scholar
• Akinloye, O., Gromoll, J., Callies, C., Nieschlag, E. and Simoni, M. (2007) Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure. Andrologia 39:190–195.
   PubMed Web of Science ®Google Scholar
• Anguiano, A., Oates, R.D., Amos, J.A., Dean, M., Gerrard, B., Stewart, C., (1992) Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 267:1794–1797.
   PubMed Web of Science ®Google Scholar
• Aoki, V.W., Liu, L., Jones, K.P., Hatasaka, H.H., Gibson, M., Peterson, C.M., (2006) Sperm protamine 1/protamine 2 ratios are related to in vitro fertilization pregnancy rates and predictive of fertilization ability. Fertil Steril 86:1408–1415.
   PubMed Web of Science ®Google Scholar
• Arpanahi, A., Brinkworth, M., Iles, D., Krawetz, S.A., Paradowska, A., Platts, A.E., (2009) Endonuclease-sensitive regions of human spermatozoal chromatin are highly enriched in promoter and CTCF binding sequences. Genome Res 19:1338–1349.
   PubMed Web of Science ®Google Scholar
• Aschim, E.L., Giwercman, A., Stahl, O., Eberhard, J., Cwikiel, M., Nordenskjold, A., (2005) The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility. J Clin Endocrinol Metab 90:5343–5348.
   PubMed Web of Science ®Google Scholar
• Aston, K.I. and Carrell, D.T. (2009) Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 30:711–725.
   PubMedGoogle Scholar
• Aston, K.I., Krausz, C., Laface, I., Ruiz-Castane, E. and Carrell, D.T. (2010) Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod Epub.
   PubMed Web of Science ®Google Scholar
• Aydemir, B., Onaran, I., Kiziler, A.R., Alici, B. and Akyolcu, M.C. (2007) Increased oxidative damage of sperm and seminal plasma in men with idiopathic infertility is higher in patients with glutathione S-transferase Mu-1 null genotype. Asian J Androl 9:108–115.
   PubMed Web of Science ®Google Scholar
• Balhorn, R. (2007) The protamine family of sperm nuclear proteins. Genome Biol 8:227.
   PubMed Web of Science ®Google Scholar
• Bernstein, B.E., Mikkelsen, T.S., Xie, X., Kamal, M., Huebert, D.J., Cuff, J., (2006) A bivalent chromatin structure marks key developmental genes in embryonic stem cells. Cell 125:315–326.
   PubMed Web of Science ®Google Scholar
• Boissonnas, C.C., Abdalaoui, H.E., Haelewyn, V., Fauque, P., Dupont, J.M., Gut, I., (2010) Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men. Eur J Hum Genet 18:73–80.
   PubMed Web of Science ®Google Scholar
• Bonache, S., Martinez, J., Fernandez, M., Bassas, L. and Larriba, S. (2007) Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis. Int J Androl 30:144–152.
   PubMedGoogle Scholar
• Botstein, D., White, R.L., Skolnick, M. and Davis, R.W. (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314–331.
   PubMed Web of Science ®Google Scholar
• Brykczynska, U., Hisano, M., Erkek, S., Ramos, L., Oakeley, E.J., Roloff, T.C., (2010) Repressive and active histone methylation mark distinct promoters in human and mouse spermatozoa. Nat Struct Mol Biol Epub ahead of print.
   PubMed Web of Science ®Google Scholar
• Carrell, D.T., Emery, B.R. and Hammoud, S. (2007) Altered protamine expression and diminished spermatogenesis: what is the link? Hum Reprod Update 13:313–327.
   PubMed Web of Science ®Google Scholar
• Carrell, D.T. and Hammoud, S.S. (2010) The human sperm epigenome and its potential role in embryonic development. Mol Hum Reprod 16:37–47.
   PubMed Web of Science ®Google Scholar
• Christensen, G.L., Ivanov, I.P., Atkins, J.F., Campbell, B. and Carrell, D.T. (2006a) Identification of polymorphisms in the Hrb, GOPC, and Csnk2a2 genes in two men with globozoospermia. J Androl 27:11–15.
   PubMed Web of Science ®Google Scholar
• Christensen, G.L., Ivanov, I.P., Atkins, J.F., Mielnik, A., Schlegel, P.N. and Carrell, D.T. (2005) Screening the SPO11 and EIF5A2 genes in a population of infertile men. Fertil Steril 84:758–760.
   PubMed Web of Science ®Google Scholar
• Christensen, G.L., Ivanov, I.P., Wooding, S.P., Atkins, J.F., Mielnik, A., Schlegel, P.N., (2006b) Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3. BMC Med Genet 7:27.
   PubMed Web of Science ®Google Scholar
• Christensen, G.L., Wooding, S.P., Ivanov, I.P., Atkins, J.F. and Carrell, D.T. (2006c) Sequencing and haplotype analysis of the activator of CREM in the testis (ACT) gene in populations of fertile and infertile males. Mol Hum Reprod 12:257–262.
   PubMed Web of Science ®Google Scholar
• Cirulli, E.T. and Goldstein, D.B. (2010) Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11:415–425.
   PubMed Web of Science ®Google Scholar
• Collins, F.S., Green, E.D., Guttmacher, A.E. and Guyer, M.S. (2003) A vision for the future of genomics research. Nature 422:835–847.
   PubMed Web of Science ®Google Scholar
• Cuppens, H. and Cassiman, J.J. (2004) CFTR mutations and polymorphisms in male infertility. Int J Androl 27:251–256.
   PubMedGoogle Scholar
• Dam, A.H., Koscinski, I., Kremer, J.A., Moutou, C., Jaeger, A.S., Oudakker, A.R., (2007) Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 81:813–820.
   PubMed Web of Science ®Google Scholar
• de la Chapelle, A. (2003) Microsatellite instability. N Engl J Med 349:209–210.
   PubMed Web of Science ®Google Scholar
• Dowell, R.D., Ryan, O., Jansen, A., Cheung, D., Agarwala, S., Danford, T., (2010) Genotype to phenotype: a complex problem. Science 328:469.
   PubMed Web of Science ®Google Scholar
• Drozdzik, M., Stefankiewicz, J., Kurzawa, R., Gornik, W., Baczkowski, T. and Kurzawski, M. (2009) Association of the MDR1 (ABCB1) gene 3435C>T polymorphism with male infertility. Pharmacol Rep 61:690–696.
   PubMed Web of Science ®Google Scholar
• Ferras, C., Zhou, X.L., Sousa, M., Lindblom, A. and Barros, A. (2007) DNA mismatch repair gene hMLH3 variants in meiotic arrest. Fertil Steril 88:1681–1684.
   PubMed Web of Science ®Google Scholar
• Filipponi, D. and Feil, R. (2009) Perturbation of genomic imprinting in oligozoospermia. Epigenetics 4:27–30.
   PubMed Web of Science ®Google Scholar
• Foresta, C. and Ferlin, A. (2004) Role of INSL3 and LGR8 in cryptorchidism and testicular functions. Reprod Biomed Online 9:294–298.
   PubMed Web of Science ®Google Scholar
• Frazer, K.A., Murray, S.S., Schork, N.J. and Topol, E.J. (2009) Human genetic variation and its contribution to complex traits. Nat Rev Genet 10:241–251.
   PubMed Web of Science ®Google Scholar
• Fritsche, E., Schuppe, H.C., Dohr, O., Ruzicka, T., Gleichmann, E. and Abel, J. (1998) Increased frequencies of cytochrome P4501A1 polymorphisms in infertile men. Andrologia 30:125–128.
   PubMed Web of Science ®Google Scholar
• Galan, J.J., Buch, B., Cruz, N., Segura, A., Moron, F.J., Bassas, L., (2005) Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology. Fertil Steril 84:910–918.
   PubMed Web of Science ®Google Scholar
• Galan, J.J., De Felici, M., Buch, B., Rivero, M.C., Segura, A., Royo, J.L., (2006) Association of genetic markers within the KIT and KITLG genes with human male infertility. Hum Reprod 21:3185–3192.
   PubMed Web of Science ®Google Scholar
• Glaser, V. (2010) Third-generation sequencing debuts. Genetic Engineering & Biotechnology News 30:30–33.
   Google Scholar
• Griffin, J., Emery, B.R., Christensen, G.L. and Carrell, D.T. (2008) Analysis of the meiotic recombination gene REC8 for sequence variations in a population with severe male factor infertility. Syst Biol Reprod Med 54:163–165.
   PubMed Web of Science ®Google Scholar
• Grigorova, M., Punab, M., Poolamets, O., Kelgo, P., Ausmees, K., Korrovits, P., (2010) Increased Prevalance of the 211 T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men. J Clin Endocrinol Metab 95:100–108.
   PubMed Web of Science ®Google Scholar
• Gu, A.H., Liang, J., Lu, N.X., Wu, B., Xia, Y.K., Lu, C.C., (2007) Association of XRCC1 gene polymorphisms with idiopathic azoospermia in a Chinese population. Asian J Androl 9:781–786.
   PubMed Web of Science ®Google Scholar
• Hammoud, S., Emery, B.R., Dunn, D., Weiss, R.B. and Carrell, D.T. (2009a) Sequence alterations in the YBX2 gene are associated with male factor infertility. Fertil Steril 91:1090–1095.
   PubMed Web of Science ®Google Scholar
• Hammoud, S.S., Nix, D.A., Zhang, H., Purwar, J., Carrell, D.T. and Cairns, B.R. (2009b) Distinctive chromatin in human sperm packages genes for embryo development. Nature 460:473–478.
   PubMed Web of Science ®Google Scholar
• Hammoud, S.S., Purwar, J., Pflueger, C., Cairns, B.R. and Carrell, D.T. (2009c) Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility. Fertil Steril Epub ahead of print.
   Web of Science ®Google Scholar
• Hiort, O., Holterhus, P.M., Horter, T., Schulze, W., Kremke, B., Bals-Pratsch, M., (2000) Significance of mutations in the androgen receptor gene in males with idiopathic infertility. J Clin Endocrinol Metab 85:2810–2815.
   PubMed Web of Science ®Google Scholar
• Houshdaran, S., Cortessis, V.K., Siegmund, K., Yang, A., Laird, P.W. and Sokol, R.Z. (2007) Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm. PLoS One 2:e1289.
   PubMed Web of Science ®Google Scholar
• Hu, J., Chen, Y.X., Wang, D., Qi, X., Li, T.G., Hao, J., (2004) Developmental expression and function of Bmp4 in spermatogenesis and in maintaining epididymal integrity. Dev Biol 276:158–171.
   PubMedGoogle Scholar
• Irie, S., Tsujimura, A., Miyagawa, Y., Ueda, T., Matsuoka, Y., Matsui, Y., (2009) Single-nucleotide polymorphisms of the PRDM9 (MEISETZ) gene in patients with nonobstructive azoospermia. J Androl 30:426–431.
   PubMedGoogle Scholar
• Jamsai, D., Reilly, A., Smith, S.J., Gibbs, G.M., Baker, H.W., McLachlan, R.I., (2008) Polymorphisms in the human cysteine-rich secretory protein 2 (CRISP2) gene in Australian men. Hum Reprod 23:2151–2159.
   PubMed Web of Science ®Google Scholar
• Jensen, M., Leffers, H., Petersen, J.H., Nyboe Andersen, A., Jorgensen, N., Carlsen, E., (2004) Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility. Hum Reprod 19:65–70.
   PubMed Web of Science ®Google Scholar
• Jensen, T.K., Jacobsen, R., Christensen, K., Nielsen, N.C. and Bostofte, E. (2009) Good semen quality and life expectancy: a cohort study of 43,277 men. Am J Epidemiol 170:559–565.
   PubMed Web of Science ®Google Scholar
• Ji, G., Gu, A., Hu, F., Wang, S., Liang, J., Xia, Y., (2009) Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality. Hum Reprod 24:2439–2446.
   Google Scholar
• Ji, G., Gu, A., Xia, Y., Lu, C., Liang, J., Wang, S., (2008) ERCC1 and ERCC2 polymorphisms and risk of idiopathic azoospermia in a Chinese population. Reprod Biomed Online 17:36–41.
   PubMed Web of Science ®Google Scholar
• Kanwal, R. and Gupta, S. (2010) Epigenetics and Cancer. J Appl Physiol: Epub ahead of print.
   Google Scholar
• Kobayashi, H., Hiura, H., John, R.M., Sato, A., Otsu, E., Kobayashi, N., (2009) DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm. Eur J Hum Genet 17:1582–1591.
   PubMed Web of Science ®Google Scholar
• Kobayashi, H., Sato, A., Otsu, E., Hiura, H., Tomatsu, C., Utsunomiya, T., (2007) Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients. Hum Mol Genet 16:2542–2551.
   PubMed Web of Science ®Google Scholar
• Kusz, K., Tomczyk, L., Spik, A., Latos-Bielenska, A., Jedrzejczak, P., Pawelczyk, L., (2009) NANOS3 gene mutations in men with isolated sterility phenotype. Mol Reprod Dev 76:804.
   PubMed Web of Science ®Google Scholar
• Kuzmin, A., Jarvi, K., Lo, K., Spencer, L., Chow, G.Y., Macleod, G., (2009) Identification of potentially damaging amino acid substitutions leading to human male infertility. Biol Reprod 81:319–326.
   PubMed Web of Science ®Google Scholar
• Lanfranco, F., Kamischke, A., Zitzmann, M. and Nieschlag, E. (2004) Klinefelter's syndrome. Lancet 364:273–283.
   PubMed Web of Science ®Google Scholar
• Layman, L.C., Cohen, D.P., Xie, J. and Smith, G.D. (2002) Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor. Fertil Steril 78:1317–1320.
   PubMed Web of Science ®Google Scholar
• Lee, H.C., Jeong, Y.M., Lee, S.H., Cha, K.Y., Song, S.H., Kim, N.K., (2006) Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility. Hum Reprod 21:3162–3170.
   PubMed Web of Science ®Google Scholar
• Lee, J., Park, H.S., Kim, H.H., Yun, Y.J., Lee, D.R. and Lee, S. (2009) Functional polymorphism in H2BFWT-5′UTR is associated with susceptibility to male infertility. J Cell Mol Med 13:1942–1951.
   PubMed Web of Science ®Google Scholar
• Liang, J., Lu, C.C., Gu, A.H., Xia, Y.K., Lu, Z.M., Xu, J., (2010) Ala499Val (C>T) and Lys939Gln (A>C) polymorphisms of the XPC gene: their correlation with male infertility. Zhonghua Nan Ke Xue 16:244–249.
   PubMedGoogle Scholar
• Maduro, M.R., Casella, R., Kim, E., Levy, N., Niederberger, C., Lipshultz, L.I., (2003) Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome. Mol Hum Reprod 9:61–68.
   PubMed Web of Science ®Google Scholar
• Manolio, T.A. and Collins, F.S. (2009) The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med 60:443–456.
   PubMed Web of Science ®Google Scholar
• Manolio, T.A., Collins, F.S., Cox, N.J., Goldstein, D.B., Hindorff, L.A., Hunter, D.J., (2009) Finding the missing heritability of complex diseases. Nature 461:747–753.
   PubMed Web of Science ®Google Scholar
• Mardis, E.R. (2009) New strategies and emerging technologies for massively parallel sequencing: applications in medical research. Genome Med 1:40.
   PubMed Web of Science ®Google Scholar
• Marques, C.J., Carvalho, F., Sousa, M. and Barros, A. (2004) Genomic imprinting in disruptive spermatogenesis. Lancet 363:1700–1702.
   PubMed Web of Science ®Google Scholar
• Marques, C.J., Costa, P., Vaz, B., Carvalho, F., Fernandes, S., Barros, A., (2008) Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia. Mol Hum Reprod 14:67–74.
   PubMed Web of Science ®Google Scholar
• Martens, J.W., Verhoef-Post, M., Abelin, N., Ezabella, M., Toledo, S.P., Brunner, H.G., (1998) A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Mol Endocrinol 12:775–784.
   PubMedGoogle Scholar
• Martin, R.H. (2008) Cytogenetic determinants of male fertility. Hum Reprod Update 14:379–390.
   PubMed Web of Science ®Google Scholar
• Matzuk, M.M. and Lamb, D.J. (2008) The biology of infertility: research advances and clinical challenges. Nat Med 14:1197–1213.
   PubMed Web of Science ®Google Scholar
• Merisalu, A., Punab, M., Altmae, S., Haller, K., Tiido, T., Peters, M., (2007) The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. Fertil Steril 88:854–859.
   PubMed Web of Science ®Google Scholar
• Miller, D., Brinkworth, M. and Iles, D. (2010) Paternal DNA packaging in spermatozoa: more than the sum of its parts? DNA, histones, protamines and epigenetics. Reproduction 139:287–301.
   PubMed Web of Science ®Google Scholar
• Miyagawa, Y., Nishimura, H., Tsujimura, A., Matsuoka, Y., Matsumiya, K., Okuyama, A., (2005) Single-nucleotide polymorphisms and mutation analyses of the TNP1 and TNP2 genes of fertile and infertile human male populations. J Androl 26:779–786.
   PubMedGoogle Scholar
• Miyamoto, T., Hasuike, S., Yogev, L., Maduro, M.R., Ishikawa, M., Westphal, H., (2003) Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet 362:1714–1719.
   PubMed Web of Science ®Google Scholar
• Miyamoto, T., Tsujimura, A., Miyagawa, Y., Koh, E., Sakugawa, N., Miyakawa, H., (2009) A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest. Asian J Androl 11:623–628.
   PubMed Web of Science ®Google Scholar
• Munroe, D.J. and Harris, T.J. (2010) Third-generation sequencing fireworks at Marco Island. Nat Biotechnol 28:426–428.
   PubMed Web of Science ®Google Scholar
• Nagvenkar, P., Desai, K., Hinduja, I. and Zaveri, K. (2005) Chromosomal studies in infertile men with oligozoospermia & non-obstructive azoospermia. Indian J Med Res 122:34–42.
   PubMed Web of Science ®Google Scholar
• Nanassy, L. and Carrell, D.T. (2008) Paternal effects on early embryogenesis. J Exp Clin Assist Reprod 5:2.
   PubMedGoogle Scholar
• Nudell, D., Castillo, M., Turek, P.J. and Pera, R.R. (2000) Increased frequency of mutations in DNA from infertile men with meiotic arrest. Hum Reprod 15:1289–1294.
   PubMed Web of Science ®Google Scholar
• Nuti, F. and Krausz, C. (2008) Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 16:504–513.
   PubMed Web of Science ®Google Scholar
• Oliva, R. (2006) Protamines and male infertility. Hum Reprod Update 12:417–435.
   PubMed Web of Science ®Google Scholar
• Panoutsopoulou, K. and Zeggini, E. (2009) Finding common susceptibility variants for complex disease: past, present and future. Brief Funct Genomic Proteomic 8:345–352.
   PubMedGoogle Scholar
• Peterlin, B., Zorn, B., Volk, M. and Kunej, T. (2006) Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility. Mol Hum Reprod 12:777–779.
   PubMed Web of Science ®Google Scholar
• Peters, M., Saare, M., Kaart, T., Haller-Kikkatalo, K., Lend, A.K., Punab, M., (2009) Analysis of Polymorphisms in the SRD5A2 Gene and Semen Parameters in Estonian Men. J Androl: Epub ahead of print.
   Google Scholar
• Poplinski, A., Tuttelmann, F., Kanber, D., Horsthemke, B. and Gromoll, J. (2009) Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1. Int J Androl: Epub ahead of print.
   Google Scholar
• Premi, S., Srivastava, J., Chandy, S.P., Ahmad, J. and Ali, S. (2006) Tandem duplication and copy number polymorphism of the SRY gene in patients with sex chromosome anomalies and males exposed to natural background radiation. Mol Hum Reprod 12:113–121.
   PubMed Web of Science ®Google Scholar
• Ramanujam, L.N., Liao, W.X., Roy, A.C. and Ng, S.C. (2000) Association of molecular variants of luteinizing hormone with male infertility. Hum Reprod 15:925–928.
   PubMed Web of Science ®Google Scholar
• Reijo, R., Lee, T.Y., Salo, P., Alagappan, R., Brown, L.G., Rosenberg, M., (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383–393.
   PubMed Web of Science ®Google Scholar
• Roach, J.C., Glusman, G., Smit, A.F., Huff, C.D., Hubley, R., Shannon, P.T., (2010) Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing. Science 5978:636–639.
   Google Scholar
• Salonia, A., Matloob, R., Gallina, A., Abdollah, F., Sacca, A., Briganti, A., (2009) Are Infertile Men Less Healthy than Fertile Men? Results of a Prospective Case-Control Survey. Eur Urol: Epub ahead of print.
   Google Scholar
• Sato, H., Miyamoto, T., Yogev, L., Namiki, M., Koh, E., Hayashi, H., (2006) Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. J Hum Genet 51:533–540.
   PubMed Web of Science ®Google Scholar
• Schultz, N., Hamra, F.K. and Garbers, D.L. (2003) A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets. Proc Natl Acad Sci USA 100:12201–12206.
   PubMed Web of Science ®Google Scholar
• Shimoda, C., Koh, E., Yamamoto, K., Matsui, F., Sugimoto, K., Sin, H.S., (2009) Single nucleotide polymorphism analysis of the follicle-stimulating hormone (FSH) receptor in Japanese with male infertility: identification of codon combination with heterozygous variations of the two discrete FSH receptor gene. Endocr J 56:859–865.
   PubMed Web of Science ®Google Scholar
• Simoni, M., Tuttelmann, F., Michel, C., Bockenfeld, Y., Nieschlag, E. and Gromoll, J. (2008) Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility. Pharmacogenet Genomics 18:193–200.
   PubMed Web of Science ®Google Scholar
• Singh, K., Singh, S.K., Sah, R., Singh, I. and Raman, R. (2005) Mutation C677T in the methylenetetrahydrofolate reductase gene is associated with male infertility in an Indian population. Int J Androl 28:115–119.
   PubMed Web of Science ®Google Scholar
• Steger, K., Wilhelm, J., Konrad, L., Stalf, T., Greb, R., Diemer, T., (2008) Both protamine-1 to protamine-2 mRNA ratio and Bcl2 mRNA content in testicular spermatids and ejaculated spermatozoa discriminate between fertile and infertile men. Hum Reprod 23:11–16.
   PubMed Web of Science ®Google Scholar
• Stouffs, K., Lissens, W., Tournaye, H., Van Steirteghem, A. and Liebaers, I. (2005) Possible role of USP26 in patients with severely impaired spermatogenesis. Eur J Hum Genet 13:336–340.
   PubMed Web of Science ®Google Scholar
• Su, D., Zhang, W., Yang, Y., Deng, Y., Ma, Y., Song, H., (2008) Mutation screening and association study of the TSSK4 Gene in Chinese infertile men with impaired spermatogenesis. J Androl 29:374–378.
   PubMedGoogle Scholar
• Su, D., Zhang, W., Yang, Y., Zhang, H., Liu, Y.Q., Bai, G., (2010) c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population. Asian J Androl 12:234–239.
   PubMed Web of Science ®Google Scholar
• Suryavathi, V., Khattri, A., Gopal, K., Rani, D.S., Panneerdoss, S., Gupta, N.J., (2008) Novel variants in UBE2B gene and idiopathic male infertility. J Androl 29:564–571.
   PubMedGoogle Scholar
• Tamowski, S., Aston, K.I. and Carrell, D.T. (2010) The use of transgenic mouse models in the study of male infertility. Syst Biol Reprod Med 56(3):260–273.
   PubMed Web of Science ®Google Scholar
• Tanaka, H., Miyagawa, Y., Tsujimura, A., Matsumiya, K., Okuyama, A. and Nishimune, Y. (2003) Single nucleotide polymorphisms in the protamine-1 and 2 genes of fertile and infertile human male populations. Mol Hum Reprod 9:69–73.
   PubMed Web of Science ®Google Scholar
• Thomas, K.R., Folger, K.R. and Capecchi, M.R. (1986) High frequency targeting of genes to specific sites in the mammalian genome. Cell 44:419–428.
   PubMed Web of Science ®Google Scholar
• Tronchon, V., Vialard, F., El Sirkasi, M., Dechaud, H., Rollet, J., Albert, M., (2008) Tumor necrosis factor-alpha 308 polymorphism in infertile men with altered sperm production or motility. Hum Reprod 23:2858–2866.
   PubMed Web of Science ®Google Scholar
• Tung, J.Y., Rosen, M.P., Nelson, L.M., Turek, P.J., Witte, J.S., Cramer, D.W., (2006) Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women. Hum Genet 118:730–740.
   PubMed Web of Science ®Google Scholar
• Tuttelmann, F., Rajpert-De Meyts, E., Nieschlag, E. and Simoni, M. (2007) Gene polymorphisms and male infertilitya meta-analysis and literature review. Reprod Biomed Online 15:643–658.
   PubMed Web of Science ®Google Scholar
• Vogt, P., Chandley, A.C., Hargreave, T.B., Keil, R., Ma, K. and Sharkey, A. (1992) Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet 89:491–496.
   PubMed Web of Science ®Google Scholar
• Vouk, K., Hudler, P., Strmsnik, L., Fink, M., Majdic, G., Zorn, B., (2005) Combinations of genetic changes in the human cAMP-responsive element modulator gene: a clue towards understanding some forms of male infertility? Mol Hum Reprod 11:567–574.
   PubMed Web of Science ®Google Scholar
• Wain, L.V., Armour, J.A. and Tobin, M.D. (2009) Genomic copy number variation, human health, and disease. Lancet 374:340–350.
   PubMed Web of Science ®Google Scholar
• Walsh, T.J., Pera, R.R. and Turek, P.J. (2009) The genetics of male infertility. Semin Reprod Med 27:124–136.
   PubMed Web of Science ®Google Scholar
• Walsh, T.J., Schembri, M., Turek, P.J., Chan, J.M., Carroll, P.R., Smith, J.F., (2010) Increased risk of high-grade prostate cancer among infertile men. Cancer 116:2140–2147.
   PubMed Web of Science ®Google Scholar
• Wang, W., Lu, N., Xia, Y., Gu, A., Wu, B., Liang, J., (2009) FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia. Reprod Biomed Online 18:141–147.
   PubMed Web of Science ®Google Scholar
• Watanabe, M., Sueoka, K., Sasagawa, I., Nakabayashi, A., Yoshimura, Y. and Ogata, T. (2004) Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins. Fertil Steril 82(Suppl 3):1067–1071.
   PubMedGoogle Scholar
• Wu, Q., Xing, J., Xue, W., Sun, J., Wang, X. and Jin, X. (2009) Influence of polymorphism of glutathione S-transferase T1 on Chinese infertile patients with varicocele. Fertil Steril 91:960–962.
   PubMed Web of Science ®Google Scholar
• Xu, K., Lu, T., Zhou, H., Bai, L. and Xiang, Y. (2010) The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. Clin Chim Acta 411:49–52.
   PubMed Web of Science ®Google Scholar
• Yun, Y.J., Lee, H.C., Kim, J.E., Song, S.H. and Lee, S. (2007) Preliminary analysis of the G178A polymorphism of insulin-like factor 3 in male infertility. Fertil Steril 88:1706–1708.
   PubMed Web of Science ®Google Scholar
• Yun, Y.J., Park, J.H., Song, S.H. and Lee, S. (2008) The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men. Fertil Steril 90:1126–1131.
   PubMed Web of Science ®Google Scholar
• Zhang, W., Zhang, S., Xiao, C., Yang, Y. and Zhoucun, A. (2007) Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men. Reproduction 133:511–516.
   PubMed Web of Science ®Google Scholar
• Zhoucun, A., Zhang, S., Yang, Y., Ma, Y., Zhang, W. and Lin, L. (2006) The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia. Eur J Obstet Gynecol Reprod Biol 124:61–64.
   PubMed Web of Science ®Google Scholar